【摘要】 目的研究中国汉族人群中miR-146a rs2910164 C>G基因多态性与先天性心脏病发生危险因素关系。方法采用以医院为基础的病例-对照研究,运用质谱SNP分型技术对120例法洛四联症(TOF)患儿,124例大动脉转位(TGA)患儿和136例对照人群进行了miR-146a rs2910164 C>G基因多态性分析,计算各种基因型的先心发生风险及其95%可信区间。结果 miR-146a rs2910164 C>G基因多态三种基因型CC,CG,GG在TOF组、TGA组以及对照组的频率分别为33.9%(CC),49.2%(CG),16.9%(GG);36.1%(CC),51.6%(CG),12.3%(GG)以及35.8%(CC),51.5%(CG),12.7%(GG);通过Logistic回归分析,发现携带miR-146a rs2910164 CG或GG等位基因型与TOF和TGA的发病风险无明显相关。结论 miR-146a rs2910164 C>G基因多态性可能不是先天性心脏病发生的危险因素,相关结果需要进一步研究证实。更多还原

【Abstract】 Objective To elucidate the association between miR-146a rs2910164 C>G polymorphism and the susceptibility to congenital heart disease in a Chinese Han population.Methods Genotypes were determined by matrix-assisted laser desorption /ionization time-of-flight mass spectrometry(MALDI-TOF MS) method in 120 Tetralogy of Fallot(TOF) cases,124 transposition of the great arteries(TGA) cases and 136 control subjects.Results The miR-146a rs2910164 C>G genotype frequencies were 33.9%(CC),49.2%(CG),16.9%(GG);36.1%(CC),51.6%(CG),12.3%(GG) in the TOF group and TGA group and 35.8%(CC),51.5%(CG),12.7%(GG) in the control group respectively;Logistic regression analyses revealed that the risk associated with miR-146a rs2910164 C>G variant genotype was not significant for TOF and TGA.Conclusion miR-146a rs2910164 C>G polymorphism may not serve as a risk factor of CHD susceptibility.Further functional studies are needed to verify our findings.更多还原